An overview of current and future treatment options for Sturge–Weber syndrome

Bibliography

• Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985;76:48-51
   PubMed Web of Science ®Google Scholar
• Powell J. Update on hemangiomas and vascular malformations. Curr Opin Pediatr 1999;11:457-63
   PubMedGoogle Scholar
• Aboutalebi A, Jessup CJ, North PE, Mihm MC Jr. Histopathology of vascular anomalies. Facial Plast Surg 2012;28:545-53
   PubMed Web of Science ®Google Scholar
• Willenberg T, Baumgartner I. Vascular birthmarks. Vasa 2008;37:5-17
   PubMed Web of Science ®Google Scholar
• Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013;368:1971-9
   PubMed Web of Science ®Google Scholar
• Harbour JW. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res 2012;25:171-81
   PubMed Web of Science ®Google Scholar
• Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science 2013;341:1237758
   PubMed Web of Science ®Google Scholar
• Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10:49-58
   PubMed Web of Science ®Google Scholar
• Kramer U, Kahana E, Shorer Z, Ben Zeev B. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol 2000;42:756-9
   PubMed Web of Science ®Google Scholar
• Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29:349-56
   PubMed Web of Science ®Google Scholar
• Sharan S, Swamy B, Taranath DA, et al. Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome. J AAPOS 2009;13(4):374-8
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia 2009;50:2154-7
   PubMed Web of Science ®Google Scholar
• Fukuyama Y, Tsuchiya S. A study on Sturge-Weber syndrome. Report of a case associated with infantile spasms and electroencephalographic evolution in five cases. Eur Neurol 1979;18:194-204
   PubMed Web of Science ®Google Scholar
• Ewen JB, Comi AM, Kossoff EH. Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. Pediatr Neurol 2007;36:115-17
   PubMed Web of Science ®Google Scholar
• Lance EI, Sreenivasan AK, Zabel TA, et al. Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol 2013;28:213-18
   PubMed Web of Science ®Google Scholar
• Zabel TA, Reesman J, Wodka EL, et al. Neuropsychological features and risk factors in children with Sturge-Weber syndrome: four case reports. Clin Neuropsychol 2010;24:841-59
   PubMed Web of Science ®Google Scholar
• Reesman J, Gray R, Suskauer SJ, et al. Hemiparesis is a clinical correlate of general adaptive dysfunction in children and adolescents with Sturge-Weber syndrome. J Child Neurol 2009;24:701-8
   PubMed Web of Science ®Google Scholar
• Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35-45
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Balasta M, Hatfield LM, et al. Self-reported treatment patterns in patients with Sturge-Weber syndrome and migraines. J Child Neurol 2007;22:720-6
   PubMed Web of Science ®Google Scholar
• Dora B, Balkan S. Sporadic hemiplegic migraine and Sturge-Weber syndrome. Headache 2001;41:209-10
   PubMed Web of Science ®Google Scholar
• Klapper J. Headache in Sturge-Weber syndrome. Headache 1994;34:521-2
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Hatfield LA, Ball KL, Comi AM. Comorbidity of epilepsy and headache in patients with sturge-weber syndrome. J Child Neurol 2005;20:678-82
   PubMed Web of Science ®Google Scholar
• Hoffman HJ, Hendrick EB, Dennis M, Armstrong D. Hemispherectomy for Sturge-Weber syndrome. Childs Brain 1979;5:233-48
   PubMedGoogle Scholar
• Arzimanoglou AA, Andermann F, Aicardi J, et al. Sturge-Weber syndrome: indications and results of surgery in 20 patients. Neurology 2000;55:1472-9
   PubMed Web of Science ®Google Scholar
• Cakirer S, Yagmurlu B, Savas MR. Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta Radiol 2005;46:407-10
   PubMed Web of Science ®Google Scholar
• Juhasz C, Batista CE, Chugani DC, et al. Evolution of cortical metabolic abnormalities and their clinical correlates in Sturge-Weber syndrome. Eur J Paediatr Neurol 2007;11(5):277-84
   PubMed Web of Science ®Google Scholar
• Fischbein NJ, Barkovich AJ, Wu Y, Berg BO. Sturge-Weber syndrome with no leptomeningeal enhancement on MRI. Neuroradiology 1998;40:177-80
   PubMed Web of Science ®Google Scholar
• Porto L, Kieslich M, Yan B, et al. Accelerated myelination associated with venous congestion. Eur Radiol 2006;16:922-6
   PubMed Web of Science ®Google Scholar
• Mentzel HJ, Dieckmann A, Fitzek C, et al. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol 2005;35(1):85-90
   PubMed Web of Science ®Google Scholar
• Hu J, Yu Y, Juhasz C, et al. MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. J Magn Reson Imaging 2008;28(2):300-7
   PubMed Web of Science ®Google Scholar
• Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child 2006;91:340-1
   PubMed Web of Science ®Google Scholar
• Comi AM, Bellamkonda S, Ferenc LM, et al. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol 2008;39:58-62
   PubMed Web of Science ®Google Scholar
• Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome. J Child Neurol 2013;28:269-74
   PubMed Web of Science ®Google Scholar
• Vaque JP, Dorsam RT, Feng X, et al. A genome-wide RNAi screen reveals a Trio-regulated Rho GTPase circuitry transducing mitogenic signals initiated by G protein-coupled receptors. Mol Cell 2013;49:94-108
   PubMed Web of Science ®Google Scholar
• Rozengurt E. Mitogenic signaling pathways induced by G protein-coupled receptors. J Cell Physiol 2007;213:589-602
   PubMed Web of Science ®Google Scholar
• Al RA, Banka N, Alfadley A. Phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome. Pediatr Dermatol 2004;21:642-5
   PubMed Web of Science ®Google Scholar
• Furukawa T, Igata A, Toyokura Y, Ikeda S. Sturge-Weber and Klippel-Trenaunay syndrome with nevus of ota and ito. Arch Dermatol 1970;102:640-5
   PubMedGoogle Scholar
• Kiley MA, Oxbury JM, Coley SC. Intracranial hypertension in Sturge-Weber/Klippel-Trenaunay-Weber overlap syndrome due to impairment of cerebral venous outflow. J Clin Neurosci 2002;9:330-3
   PubMed Web of Science ®Google Scholar
• Leung AK, Lowry RB, Mitchell I, et al. Klippel-Trenaunay and Sturge-Weber syndrome with extensive Mongolian spots, hypoplastic larynx and subglottic stenosis. Clin Exp Dermatol 1988;13:128-32
   PubMed Web of Science ®Google Scholar
• Kramer W. Syndromes of Klippel-TR’Enaunay AND Sturge-Weber in the same patient. Psychiatr Neurol Neurochir 1963;66:362-70
   PubMedGoogle Scholar
• Hagiwara K, Uezato H, Nonaka S. Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. J Dermatol 1998;25:721-9
   PubMedGoogle Scholar
• Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-9
   PubMed Web of Science ®Google Scholar
• Lachlan KL. Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. J Natl Cancer Inst 2013;105:1595-7
   PubMedGoogle Scholar
• Norman MG, Schoene WC. The ultrastructure of Sturge-Weber disease. Acta Neuropathol 1977;37:199-205
   PubMed Web of Science ®Google Scholar
• Maton B, Krsek P, Jayakar P, et al. Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: implications for surgical therapy. Epilepsia 2010;51:257-67
   PubMed Web of Science ®Google Scholar
• Wu J, Tarabishy B, Hu J, et al. Cortical calcification in Sturge-Weber syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging 2011;34:791-8
   PubMed Web of Science ®Google Scholar
• Kimple AJ, Bosch DE, Giguere PM, Siderovski DP. Regulators of G-protein signaling and their Galpha substrates: promises and challenges in their use as drug discovery targets. Pharmacol Rev 2011;63:728-49
   PubMed Web of Science ®Google Scholar
• Murakami N, Morioka T, Suzuki SO, et al. Focal cortical dysplasia type IIa underlying epileptogenesis in patients with epilepsy associated with Sturge-Weber syndrome. Epilepsia 2012;53:e184-8
   PubMed Web of Science ®Google Scholar
• Ward NL, Lamanna JC. The neurovascular unit and its growth factors: coordinated response in the vascular and nervous systems. Neurol Res 2004;26:870-83
   PubMed Web of Science ®Google Scholar
• Rosen S, Smoller BR. Port-wine stains: a new hypothesis. J Am Acad Dermatol 1987;17:164-6
   PubMed Web of Science ®Google Scholar
• Sa M, Barroso CP, Caldas MC, et al. Innervation pattern of malformative cortical vessels in Sturge-Weber disease: an histochemical, immunohistochemical, and ultrastructural study. Neurosurgery 1997;41:872-6
   PubMed Web of Science ®Google Scholar
• Rydh M, Malm M, Jernbeck J, Dalsgaard CJ. Ectatic blood vessels in port-wine stains lack innervation: possible role in pathogenesis. Plast Reconstr Surg 1991;87:419-22
   PubMed Web of Science ®Google Scholar
• Smoller BR, Rosen S. Port-wine stains. A disease of altered neural modulation of blood vessels? Arch Dermatol 1986;122:177-9
   PubMed Web of Science ®Google Scholar
• Griffiths PD, Boodram MB, Blaser S, et al. 99mTechnetium HMPAO imaging in children with the Sturge-Weber syndrome: a study of nine cases with CT and MRI correlation. Neuroradiology 1997;39:219-24
   PubMed Web of Science ®Google Scholar
• Namer IJ, Battaglia F, Hirsch E, et al. Subtraction ictal SPECT co-registered to MRI (SISCOM) in Sturge-Weber syndrome. Clin Nucl Med 2005;30:39-40
   PubMed Web of Science ®Google Scholar
• Aylett SE, Neville BG, Cross JH, et al. Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. Dev Med Child Neurol 1999;41:480-5
   PubMed Web of Science ®Google Scholar
• Comati A, Beck H, Halliday W, et al. Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge-Weber syndrome. J Neuropathol Exp Neurol 2007;66:86-97
   PubMed Web of Science ®Google Scholar
• Sreenivasan AK, Bachur CD, Lanier KE, et al. Urine vascular biomarkers in Sturge-Weber syndrome. Vasc Med 2013;18:122-8
   PubMed Web of Science ®Google Scholar
• Argraves WS, Drake CJ. Genes critical to vasculogenesis as defined by systematic analysis of vascular defects in knockout mice. Anat Rec A Discov Mol Cell Evol Biol 2005;286:875-84
   PubMedGoogle Scholar
• Jiang BH, Liu LZ. Role of mTOR in anticancer drug resistance: perspectives for improved drug treatment. Drug Resist Updat 2008;11:63-76
   PubMed Web of Science ®Google Scholar
• Di Trapani G, Di Rocco C, Abbamondi AL, et al. Light microscopy and ultrastructural studies of Sturge-Weber disease. Childs Brain 1982;9:23-36
   PubMedGoogle Scholar
• Rhoten RL, Comair YG, Shedid D, et al. Specific repression of the preproendothelin-1 gene in intracranial arteriovenous malformations. J Neurosurg 1997;86:101-8
   PubMed Web of Science ®Google Scholar
• Hahn AW, Resink TJ, Mackie E, et al. Effects of peptide vasoconstrictors on vessel structure. Am J Med 1993;94:13S-9S
   PubMed Web of Science ®Google Scholar
• Grant K, Loizidou M, Taylor I. Endothelin-1: a multifunctional molecule in cancer. Br J Cancer 2003;88:163-6
   PubMed Web of Science ®Google Scholar
• Chapas AM, Eickhorst K, Geronemus RG. Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med 2007;39:563-8
   PubMed Web of Science ®Google Scholar
• Iwach AG, Hoskins HD Jr, Hetherington J Jr, Shaffer RN. Analysis of surgical and medical management of glaucoma in Sturge-Weber syndrome. Ophthalmology 1990;97:904-9
   PubMed Web of Science ®Google Scholar
• Patrianakos TD, Nagao K, Walton DS. Surgical management of glaucoma with the sturge weber syndrome. Int Ophthalmol Clin 2008;48:63-78
   PubMedGoogle Scholar
• Maria BL, Neufeld JA, Rosainz LC, et al. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol 1998;13:606-18
   PubMed Web of Science ®Google Scholar
• Maria BL, Neufeld JA, Rosainz LC, et al. High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. J Child Neurol 1998;13:595-605
   PubMed Web of Science ®Google Scholar
• Udani V, Pujar S, Munot P, et al. Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber Syndrome patients and clinical correlation. J Child Neurol 2007;22:479-83
   PubMed Web of Science ®Google Scholar
• Bay MJ, Kossoff EH, Lehmann CU, et al. Survey of aspirin use in Sturge-Weber syndrome. J Child Neurol 2011;26:692-702
   PubMed Web of Science ®Google Scholar
• Greco F, Fiumara A, Sorge G, Pavone L. Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable? Childs Nerv Syst 2008;24:1479-81
   PubMed Web of Science ®Google Scholar
• Lopez J, Yeom KW, Comi A, Van HK. Case report of subdural hematoma in a patient with Sturge-Weber syndrome and literature review: questions and implications for therapy. J Child Neurol 2013;28:672-5
   PubMed Web of Science ®Google Scholar
• Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure 2002;11:145-50
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Borsage JL, Comi AM. A pilot study of the modified Atkins diet for Sturge-Weber syndrome. Epilepsy Res 2010;92:240-3
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 2002;59:1735-8
   PubMed Web of Science ®Google Scholar
• Tuxhorn IE, Pannek HW. Epilepsy surgery in bilateral Sturge-Weber syndrome. Pediatr Neurol 2002;26:394-7
   PubMed Web of Science ®Google Scholar
• Ewen JB, Kossoff EH, Crone NE, et al. Use of quantitative EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvement. Clin Neurophysiol 2009;120:1433-40
   PubMed Web of Science ®Google Scholar
• Hatfield LA, Crone NE, Kossoff EH, et al. Quantitative EEG analysis correlation with clinical severity in unilateral Sturge-Weber syndrome. Epilepsia. 2007;48:191-5
   PubMed Web of Science ®Google Scholar